GeneDx Announces Biogen, Praxis Precision Medicines And Stoke Therapeutics As The Founding Partners To Its Patient Access Program For Pediatric Epilepsy, Which Provides Access To Whole Exome Sequencing.
GeneDx Announces Biogen, Praxis Precision Medicines And Stoke Therapeutics As The Founding Partners To Its Patient Access Program For Pediatric Epilepsy, Which Provides Access To Whole Exome Sequencing.
GeneDx (NASDAQ:WGS), a leader in delivering improved health outcomes through genomic insights, today announced Biogen (NASDAQ:BIIB), Praxis Precision Medicines (NASDAQ:PRAX) and Stoke Therapeutics (NASDAQ:STOK) as the founding partners to its Patient Access Program for pediatric epilepsy, which provides access to whole exome sequencing.
GeneDx（納斯達克：WGS），通過基因組洞察提升健康結果的領導者，今天宣佈渤健公司（納斯達克：BIIB）、praxis precision medicines（納斯達克：PRAX）和stoke therapeutics（納斯達克：STOK）作爲其兒童癲癇患者接入計劃的創始合作伙伴，該計劃爲全外顯子組測序提供接入。
Currently, access to a definitive genetic diagnosis in pediatric epilepsy remains limited, as evidenced by the 5–8-year diagnostic odyssey that many children face.1 While patients may receive targeted multi-gene panel testing, there are more than 700 different genes related to seizures, and less than 50% of those genes are included on most commercially available gene panels.2 This program increases access to exome testing, increasing the chance of receiving a definitive diagnosis. Nearly 25% of patients with seizures received a genetic diagnosis through exome testing, compared to a previously reported 19% diagnostic yield for epilepsy gene panels.3
目前，兒童癲癇的明確基因診斷獲取仍然有限，這體現在許多兒童面臨的5-8年的診斷odyssey上。雖然患者可能會接受靶向多基因面板測試，但與癲癇相關的基因超過700個，而大多數商業基因面板中包含的這些基因不足50%。該計劃增加了對外顯子組測試的獲取，提高了獲得明確診斷的機會。通過外顯子組測試，近25%的癲癇患者獲得了基因診斷，而之前報道的癲癇基因面板的診斷率爲19%。
